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CEP68 centrosomal protein 68 [ Homo sapiens (human) ]

Gene ID: 23177, updated on 2-Nov-2024

Summary

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Official Symbol
CEP68provided by HGNC
Official Full Name
centrosomal protein 68provided by HGNC
Primary source
HGNC:HGNC:29076
See related
Ensembl:ENSG00000011523 MIM:616889; AllianceGenome:HGNC:29076
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIAA0582
Summary
Enables protein domain specific binding activity and protein kinase binding activity. Involved in centriole-centriole cohesion and protein localization to organelle. Located in several cellular components, including centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 8.3), ovary (RPKM 8.1) and 25 other tissues See more
Orthologs
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Genomic context

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See CEP68 in Genome Data Viewer
Location:
2p14
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (65056416..65087004)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (65066038..65096632)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (65283550..65314138)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 548, pseudogene Neighboring gene solute carrier family 1 member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15923 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:65258211-65259074 Neighboring gene long intergenic non-protein coding RNA 2576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15924 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:65277603-65277775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:65288315-65288816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:65294702-65295470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:65295471-65296237 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:65297006-65297772 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:65304333-65305043 Neighboring gene RAB1A, member RAS oncogene family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:65354445-65354984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:65356508-65357022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:65357023-65357536 Neighboring gene small nucleolar RNA SNORA74 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:65404421-65404957 Neighboring gene MPRA-validated peak3732 silencer Neighboring gene uncharacterized LOC124907779 Neighboring gene VDAC2 pseudogene 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Two intronic variants (rs2241160 and rs2241161) were significantly associated with an increased risk of single-NSAID-induced urticaria/angioedema or anaphylaxis (SNIUAA), suggesting CEP68 to be a key player in both types of Non-steroidal anti-inflammatory drugs hypersensitivity.
    Title: Polymorphisms in CEP68 gene associated with risk of immediate selective reactions to non-steroidal anti-inflammatory drugs.
  2. CEP68 is important in forming rootletin filaments that branch off centrioles and to modulate the thickness of rootletin fibers.
    Title: STED nanoscopy of the centrosome linker reveals a CEP68-organized, periodic rootletin network anchored to a C-Nap1 ring at centrioles.
  3. It has been proposed that the archetypal linker protein Rootletin maintains centrosome cohesion in part through inhibition of VHL-mediated Cep68 degradation.
    Title: Rootletin prevents Cep68 from VHL-mediated proteasomal degradation to maintain centrosome cohesion.
  4. The Cep68 protein level needs to be fine-tuned in order to ensure that its direct interactors, such as the microcephaly protein Cep215 and PCNT, function properly.
    Title: Centrosomal MCM7 strengthens the Cep68-VHL interaction and excessive MCM7 leads to centrosome splitting resulting from increase in Cep68 ubiquitination and proteasomal degradation.
  5. Cep68 degradation allows Cep215 removal from peripheral pericentriolar material (PCM) preventing centriole separation following disengagement, PCNT cleavage mediates Cep215 removal from core of the PCM to inhibit centriole disengagement and duplication
    Title: Degradation of Cep68 and PCNT cleavage mediate Cep215 removal from the PCM to allow centriole separation, disengagement and licensing.
  6. C-terminal 300-400 amino acids of Cep68 are necessary to localize Cep68 to interphase centrosomes while C-terminal 400-500 amino acids might regulate Cep68 dissociation from centrosomes at mitotic onset.
    Title: Cep68 can be regulated by Nek2 and SCF complex.
  7. CEP68 gene variants may play an important role in MNSAID-UA susceptibility and, despite the different regulatory mechanisms involved depending on the specific affected organ, in the development of hypersensitivity reactions to NSAIDs.
    Title: Variants of CEP68 gene are associated with acute urticaria/angioedema induced by multiple non-steroidal anti-inflammatory drugs.
  8. Centlein complexes with C-Nap1 and Cep68 at the proximal ends of centrioles during interphase.
    Title: Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion.
  9. Findings imply that CEP68 could be a susceptible gene for aspirin intolerance in asthmatics.
    Title: Genome-wide and follow-up studies identify CEP68 gene variants associated with risk of aspirin-intolerant asthma.
  10. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Genome-wide and follow-up studies identify CEP68 gene variants associated with risk of aspirin-intolerant asthma.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of centrosomal protein 68kDa (CEP68) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25920, FLJ36750

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in centriole-centriole cohesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in centrosome cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to organelle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
  
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
centrosomal protein of 68 kDa
Names
centrosomal protein 68kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001319100.2 → NP_001306029.1  centrosomal protein of 68 kDa isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC007318, AC007386, AK299373, CA398160
    Consensus CDS
    CCDS1880.2
    UniProtKB/Swiss-Prot
    B4DRQ1, D6W5F1, D6W5F2, O60326, Q76N32, Q9BQ18, Q9UDM9
    UniProtKB/TrEMBL
    A0A994J534
    Related
    ENSP00000515601.1, ENST00000703983.1
    Conserved Domains (1) summary
    PHA03247
    Location:286 → 443
    PHA03247; large tegument protein UL36; Provisional

  2. NM_001319101.2 → NP_001306030.1  centrosomal protein of 68 kDa isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AB011154, AC007318, AC007386, BC004873, CA398160
    Consensus CDS
    CCDS82457.1
    UniProtKB/TrEMBL
    A0A994J770
    Related
    ENSP00000260569.4, ENST00000260569.4
    Conserved Domains (1) summary
    PHA03247
    Location:286 → 443
    PHA03247; large tegument protein UL36; Provisional

  3. NM_001410838.1 → NP_001397767.1  centrosomal protein of 68 kDa isoform c

    Status: VALIDATED

    Source sequence(s)
    AC007318, AC007386, AC084278
    Consensus CDS
    CCDS92772.1
    UniProtKB/TrEMBL
    A0A994J4E5
    Related
    ENSP00000515890.1, ENST00000704388.1

  4. NM_015147.3 → NP_055962.2  centrosomal protein of 68 kDa isoform a

    See identical proteins and their annotated locations for NP_055962.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AB011154, AC007318, CA398160
    Consensus CDS
    CCDS1880.2
    UniProtKB/Swiss-Prot
    B4DRQ1, D6W5F1, D6W5F2, O60326, Q76N32, Q9BQ18, Q9UDM9
    UniProtKB/TrEMBL
    A0A994J534
    Related
    ENSP00000367229.2, ENST00000377990.7
    Conserved Domains (1) summary
    PHA03247
    Location:286 → 443
    PHA03247; large tegument protein UL36; Provisional

RNA

  1. NR_134966.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB011154, AC007318, AC007386, AK299373, AK304110, CA398160
    Related
    ENST00000703915.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    65056416..65087004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    65066038..65096632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q76N32.2 GenPept UniProtKB/Swiss-Prot:Q76N32

Gene LinkOut

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